Canonical Allele Identifier: CA1590737399
Gene: SLC26A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978090_149978100delinsTGCCAGCATCA , CM000667.2:g.149978090_149978100delinsTGCCAGCATCA GRCh38
NC_000005.9:g.149357653_149357663delinsTGCCAGCATCA , CM000667.1:g.149357653_149357663delinsTGCCAGCATCA GRCh37
NC_000005.8:g.149337846_149337856delinsTGCCAGCATCA NCBI36
NG_007147.2:g.19208_19218delinsTGCCAGCATCA , LRG_684:g.19208_19218delinsTGCCAGCATCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.670_680delinsTGCCAGCATCA
ENST00000286298.5:c.438_448delinsTGCCAGCATCA MANE Select ENSP00000286298.4:p.Phe146=
ENST00000286298.4:c.438_448delinsTGCCAGCATCA ENSP00000286298.4:p.Phe146=
ENST00000503336.1:c.111_121delinsTGCCAGCATCA ENSP00000426053.1:p.Phe37=
NM_000112.3:c.438_448delinsTGCCAGCATCA , LRG_684t1:c.438_448delinsTGCCAGCATCA NP_000103.2:p.Phe146=
XM_017009191.2:c.438_448delinsTGCCAGCATCA XP_016864680.1:p.Phe146=
NM_000112.4:c.438_448delinsTGCCAGCATCA MANE Select NP_000103.2:p.Phe146=
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